How do you manage Fabry disease?
Fabry disease (FD), a rare X-linked disease, can be treated with bi-monthly infusion of enzyme replacement therapy (ERT) to replace deficient α-galactosidase A (AGAL-A). ERT reduces symptoms, improves quality of life (QoL), and improves clinical signs and biochemical markers.
What is the life expectancy of someone with Fabry disease?
The life expectancy of males with Fabry disease was 58.2 years, compared with 74.7 years in the general population of the United States. The life expectancy of females with Fabry disease was 75.4 years, compared with 80.0 years in the United States general population.
Can you live a normal life with Fabry disease?
Many people with Fabry disease live full and productive lives. But men in particular don’t live as long as normal. The reason is usually heart disease or kidney disease. If your doctor finds and treats these problems early, it may help lengthen your lifespan.
How does Fabry disease affect the heart?
Cardiac involvement is a frequent finding in Fabry disease, both in hemizygous men and heterozygous women. Cardiac hypertrophy associated with depressed contractility and diastolic filling impairment is common, and coronary insufficiency, AV conduction disturbances, arrhythmias and valvular involvement may be present.
Does Fabry disease make you tired?
Fabry disease can leave you feeling drained, but treatment and lifestyle changes can boost your energy. There are many reasons why you get fatigue from Fabry disease. Ongoing pain, inflammation, and depression likely play a role. Stomach problems like diarrhea can sap your energy, too.
Is Fabry an autoimmune disease?
Discussion: Fabry disease is multi-systemic and shares common symptoms with autoimmune rheumatic diseases, for example fatigue (62%) and neuropathic pain (77%).
How does Fabry disease affect the brain?
As a result, many neurological deficits may occur in a patient with Fabry disease. These include hemiparesis, vertigo/dizziness, diplopia, dysarthria, nystagmus, nausea/vomiting, headaches, hemiataxia and dysmetria, cerebellar gait ataxia and, very rarely, cerebral haemorrhage [4].
Is Fabry disease a terminal illness?
Fabry disease is a rare, inherited disease caused by the deficiency of an enzyme. It is a lipid storage disorder that mainly affects males. The disease can cause long-term difficulties in the kidneys, heart, and nervous system. It can be fatal.
Is Fabry disease a disability?
Social Security Benefits If you or your dependent(s) are diagnosed with Fabry Disease and experience any of these symptoms, you may be eligible for disability benefits from the U.S. Social Security Administration.
Is there a cure coming soon for Fabry disease?
There is no cure for Fabry disease. Recombinant alpha-galactosidase A (alpha-Gal A), the enzyme that is deficient in patients with Fabry disease, and migalastat hydrochloride, an oral pharmacologic chaperone that facilitates trafficking of alpha-Gal A to lysosomes, are therapeutic options for eligible individuals.
Is Fabry disease fatal?
What are the signs and symptoms of Fabry disease?
It can have lots of different symptoms, including pain in the hands and feet and a specific kind of rash. When you have Fabry disease, a certain type of fatty substance builds up in the cells of your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, brain, and nervous system.
Is there a specific Fabry disease diet?
There isn’t a specific Fabry disease diet. You’ll need to work with your doctor and a registered dietitian to find a balanced plan. They’ll pick one based on your symptoms and overall health. The goal is to help you eat comfortably while getting all the nutrition you need.
What are the diagnostic options for Fabry disease?
Diagnosis of Fabry disease in males includes the detection of decreased α-galactosidase A activity and in females the determination of a disease-causing mutation. Current treatment options of enzyme replacement therapy and chaperone therapy can improve disease burden and quality of life.
What is the treatment for hypertrophic cardiomyopathy caused by Fabry disease?
200. Müntze J., Salinger T., Gensler D., Wanner C., Nordbeck P. Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy. Eur. Heart J. 2018;39:1861–1862. doi: 10.1093/eurheartj/ehy072.
What is the patient management algorithm for Fabry disease?
The patient-management algorithm addresses the need for early disease-specific therapy to delay or slow disease progression, as well as nonspecific adjunctive therapies that prevent or treat organ damage and stabilize quality of life [6]. Fabry Disease-Specific Current Treatment